{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T23:29:21Z","timestamp":1700263761752},"reference-count":3,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,15]],"date-time":"2003-05-15T00:00:00Z","timestamp":1052956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features are discussed and additional phenotypic manifestations are discussed. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20274","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T14:11:08Z","timestamp":1061561468000},"page":"281-282","source":"Crossref","is-referenced-by-count":2,"title":["Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype"],"prefix":"10.1002","volume":"121A","author":[{"given":"Marc S.","family":"Williams","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin D.","family":"Josephson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04146.x"},{"key":"e_1_2_4_3_1","first-page":"211","article-title":"Spasticity, mental retardation, macrocephaly, and distinct craniofacial appearance: Confirmation of a new subtype of complicated spastic paraplegia?","volume":"9","author":"Moog U","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_4_4_1","unstructured":"Online Mendelian Inheritance in Man OMIM (TM) 1995. Johns Hopkins University Baltimore MD. MIM Number: {600302}: {9\/23\/1995}: World Wide Web URL:http\/\/www.ncbi.nlm.nih.gov\/omin\/"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20274","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T19:06:23Z","timestamp":1700247983000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,11]]},"references-count":3,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["10.1002\/ajmg.a.20274"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20274","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,11]]}}}